Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia

Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):356-62. doi: 10.1080/08880010902973251.

Abstract

Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. The authors describe a 10-year-old Iranian girl with hypochromic microcytic anemia. The age presentation of anemia was 3 months. Further evaluations indicate severe hypochromic microcytic anemia with decreased serum levels of iron, TIBC, and increased serum level of ferritin in this patient. The serum level of transferrin was decreased. The diagnosis of atransferrinemia was confirmed. Although atransferrinemia is a rare condition, it should be considered in the cases with hypochromic microcytic anemia, decreased serum levels of iron, TIBC, and increased serum level of ferritin.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hypochromic / diagnosis*
  • Anemia, Hypochromic / drug therapy
  • Anemia, Hypochromic / metabolism*
  • Anemia, Hypochromic / pathology
  • Blood Transfusion
  • Bone Marrow / pathology
  • Child
  • Deferiprone
  • Female
  • Ferritins / blood
  • Folic Acid / administration & dosage
  • Folic Acid / therapeutic use
  • Follow-Up Studies
  • Hemosiderosis / diagnosis
  • Hemosiderosis / metabolism
  • Humans
  • Iron / blood
  • Iron Chelating Agents / administration & dosage
  • Iron Chelating Agents / therapeutic use
  • Pyridones / administration & dosage
  • Pyridones / therapeutic use
  • Transferrin / deficiency*
  • Vitamin B Complex / administration & dosage
  • Vitamin B Complex / therapeutic use

Substances

  • Iron Chelating Agents
  • Pyridones
  • Transferrin
  • Vitamin B Complex
  • Deferiprone
  • Ferritins
  • Folic Acid
  • Iron